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Year | Number of Results |
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2022 | 1 |
2023 | 2 |
2024 | 3 |
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Page 1
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.
Genome Med. 2023 Oct 7;15(1):81. doi: 10.1186/s13073-023-01228-w.
Genome Med. 2023.
PMID: 37805537
Free PMC article.
Patterns and distribution of de novo mutations in multiplex Middle Eastern families.
Kohailan M, Aamer W, Syed N, Padmajeya S, Hussein S, Sayed A, Janardhanan J, Palaniswamy S, El Hajj N, Al-Shabeeb Akil A, Fakhro KA.
Kohailan M, et al. Among authors: palaniswamy s.
J Hum Genet. 2022 Oct;67(10):579-588. doi: 10.1038/s10038-022-01054-9. Epub 2022 Jun 20.
J Hum Genet. 2022.
PMID: 35718832
Free PMC article.
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A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.
Al-Maraghi A, Aamer W, Ziab M, Aliyev E, Elbashir N, Hussein S, Palaniswamy S, Anand D, Love DR, Charles A, A S Akil A, Fakhro KA.
Al-Maraghi A, et al. Among authors: palaniswamy s.
BMC Nephrol. 2024 Apr 22;25(1):139. doi: 10.1186/s12882-024-03569-z.
BMC Nephrol. 2024.
PMID: 38649831
Free PMC article.
Review.
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Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W, Al-Maraghi A, Syed N, Gandhi GD, Aliyev E, Al-Kurbi AA, Al-Saei O, Kohailan M, Krishnamoorthy N, Palaniswamy S, Al-Malki K, Abbasi S, Agrebi N, Abbaszadeh F, Akil ASA, Badii R, Ben-Omran T, Lo B; Qatar Genome Program Research Consortium; Mokrab Y, Fakhro KA.
Aamer W, et al. Among authors: palaniswamy s.
Genome Med. 2024 Apr 8;16(1):46. doi: 10.1186/s13073-024-01307-6.
Genome Med. 2024.
PMID: 38584274
Free PMC article.
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A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes.
Al-Kurbi AA, Aliyev E, AlSa'afin S, Aamer W, Palaniswamy S, Al-Maraghi A, Kilani H, Akil AA, Stotland MA, Fakhro KA.
Al-Kurbi AA, et al. Among authors: palaniswamy s.
Genes (Basel). 2023 Mar 31;14(4):849. doi: 10.3390/genes14040849.
Genes (Basel). 2023.
PMID: 37107607
Free PMC article.
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Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder.
Shaath R, Al-Maraghi A, Ali H, AlRayahi J, Kennedy AD, DeBalsi KL, Hussein S, Elbashir N, Padmajeya SS, Palaniswamy S, Elsea SH, Akil AA, Yousri NA, Fakhro KA.
Shaath R, et al. Among authors: palaniswamy s.
Metabolites. 2024 Mar 4;14(3):152. doi: 10.3390/metabo14030152.
Metabolites. 2024.
PMID: 38535312
Free PMC article.
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